SynGAP10 weekly 10 minute updates on SYNGAP1

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer  #S10e128

Listen Later

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer  #S10e128

 

A few studies to make sure you are in over the holidays!  One brand new!

  1. NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
  • GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected]
  • GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected]
  • USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!
  • USA, East of the mountains: [email protected] free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.
  • Texas: QEEG at Cook Childrens.  Email Corey.

    • All studies are on https://curesyngap1.org/studies/ 

     

    Research Matters:

    • Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic - Free download until 2.1.24 1 with this link! https://authors.elsevier.com/c/1iFXZ5Qt1G-z5i - Webinar with 1st Author Ben Thomas coming in 2024!
  • 43 Papers on Pubmed to date! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2023-2023&sort=pubdate 

    •  

    Fundraising - Let’s get to $2M!

    • Give Up Your Cup - https://Syngap.Fund/GUYC23
  • Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harper 

    •  

    Reminder on resources:

    • Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/
  • Tell your Warrior Story - [email protected]
  • Volunteer - https://curesyngap1.org/volunteer-with-srf/
  • New Sibling Page - https://curesyngap1.org/syngap-siblings/

    •  

    Great Press Lately -

    • Suzanne! https://www.atlantanewsfirst.com/2023/12/21/georgia-parents-raising-awareness-their-daughters-rare-genetic-disorder/
  • Exciting! https://www.thetransmitter.org/spectrum/syngap1-findings-illuminate-links-between-mutations-intellectual-disability/
  • More on Organoids… https://news.wisc.edu/stem-cell-technology-developed-at-uw-madison-leads-to-new-understanding-of-autism-risks/
  • Chicagoland… https://phys.org/news/2023-11-approaches-gene-insufficiency.html 

    •  

    Pods to catch up on!

    Cafe Syngap1 Episode 7 is live!

    https://podcasts.apple.com/us/podcast/episodio-07-marisol-parra-y-su-hija-isabella-desde/id1705809525?i=1000638623895 

     

    The Juggle is Real

    Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real 

     

    Give all three of our podcasts 5 stars everywhere.  

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

     

    This is a podcast subscribe!

    https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818


    Episode 128 of #Syngap10 - December 22, 2023

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

    ...more
    View all episodesView all episodes
    Download on the App Store
    SynGAP10 weekly 10 minute updates on SYNGAP1By Syngap Research Fund, 501(c)(3)
    • 5
    • 5
    • 5
    • 5
    • 5

    5

    83 ratings

    More shows like SynGAP10 weekly 10 minute updates on SYNGAP1

    View all
    The Joe Rogan Experience by Joe Rogan

    The Joe Rogan Experience

    223,304 Listeners

    Fantasy Footballers - Fantasy Football Podcast by Fantasy Football

    Fantasy Footballers - Fantasy Football Podcast

    28,392 Listeners

    Once Upon A Gene by Effie Parks

    Once Upon A Gene

    276 Listeners

    Shawn Ryan Show by Shawn Ryan

    Shawn Ryan Show

    41,523 Listeners

    SYNGAP1 Stories by Syngap Research Fund, 501(c)(3)

    SYNGAP1 Stories

    20 Listeners

    Café SYNGAP1 by Syngap Research Fund, 501(c)(3)

    Café SYNGAP1

    18 Listeners

    The Tucker Carlson Show by Tucker Carlson Network

    The Tucker Carlson Show

    14,078 Listeners